Incidental Mutation 'R7579:Ptbp1'
| ID |
586653 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ptbp1
|
| Ensembl Gene |
ENSMUSG00000006498 |
| Gene Name |
polypyrimidine tract binding protein 1 |
| Synonyms |
Ptb, hnRNP I |
| MMRRC Submission |
045633-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7579 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
79690502-79700269 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79694954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 94
(N94S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057343]
[ENSMUST00000095457]
[ENSMUST00000165704]
[ENSMUST00000165724]
[ENSMUST00000167250]
[ENSMUST00000168683]
[ENSMUST00000172282]
[ENSMUST00000169483]
[ENSMUST00000171599]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057343
AA Change: N94S
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000059481
Gene: ENSMUSG00000006498
AA Change: N94S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
38 |
N/A |
INTRINSIC |
|
RRM
|
59 |
128 |
9.8e-9 |
SMART |
|
low complexity region
|
161 |
178 |
N/A |
INTRINSIC |
|
RRM
|
184 |
253 |
4.75e-7 |
SMART |
|
low complexity region
|
305 |
330 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095457
AA Change: N54S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000093109
Gene: ENSMUSG00000006498
AA Change: N54S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RRM_6
|
36 |
86 |
1.9e-5 |
PFAM |
|
Pfam:RRM_5
|
38 |
90 |
3.6e-12 |
PFAM |
|
low complexity region
|
121 |
138 |
N/A |
INTRINSIC |
|
RRM
|
144 |
213 |
4.75e-7 |
SMART |
|
low complexity region
|
265 |
290 |
N/A |
INTRINSIC |
|
RRM
|
296 |
365 |
1.84e-13 |
SMART |
|
RRM
|
413 |
483 |
2.6e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165704
AA Change: N94S
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000127783
Gene: ENSMUSG00000006498
AA Change: N94S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
38 |
N/A |
INTRINSIC |
|
RRM
|
59 |
128 |
9.8e-9 |
SMART |
|
low complexity region
|
161 |
178 |
N/A |
INTRINSIC |
|
RRM
|
184 |
253 |
4.75e-7 |
SMART |
|
low complexity region
|
305 |
330 |
N/A |
INTRINSIC |
|
RRM
|
336 |
405 |
1.84e-13 |
SMART |
|
RRM
|
453 |
523 |
2.6e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165724
|
| SMART Domains |
Protein: ENSMUSP00000130749
Gene: ENSMUSG00000006498
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RRM_5
|
2 |
40 |
5.3e-7 |
PFAM |
|
low complexity region
|
114 |
139 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167250
|
| SMART Domains |
Protein: ENSMUSP00000130695
Gene: ENSMUSG00000035835
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
17 |
39 |
N/A |
INTRINSIC |
|
transmembrane domain
|
69 |
91 |
N/A |
INTRINSIC |
|
acidPPc
|
132 |
276 |
1.38e-16 |
SMART |
|
low complexity region
|
437 |
454 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168683
|
| SMART Domains |
Protein: ENSMUSP00000132383
Gene: ENSMUSG00000006498
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
8 |
N/A |
INTRINSIC |
|
SCOP:d2u1a__
|
17 |
55 |
3e-3 |
SMART |
|
PDB:2AD9|A
|
18 |
55 |
9e-19 |
PDB |
|
Blast:RRM
|
29 |
55 |
2e-11 |
BLAST |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000128449
Gene: ENSMUSG00000006498
AA Change: N44S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
19 |
N/A |
INTRINSIC |
|
Pfam:RRM_5
|
29 |
81 |
3.5e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172282
AA Change: N94S
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000126192
Gene: ENSMUSG00000006498
AA Change: N94S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
38 |
N/A |
INTRINSIC |
|
RRM
|
59 |
128 |
9.8e-9 |
SMART |
|
low complexity region
|
161 |
178 |
N/A |
INTRINSIC |
|
RRM
|
184 |
253 |
4.75e-7 |
SMART |
|
low complexity region
|
331 |
356 |
N/A |
INTRINSIC |
|
RRM
|
362 |
431 |
1.84e-13 |
SMART |
|
RRM
|
479 |
549 |
2.6e-13 |
SMART |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000169483
|
| SMART Domains |
Protein: ENSMUSP00000127507
Gene: ENSMUSG00000006498
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
38 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171599
|
| SMART Domains |
Protein: ENSMUSP00000131296
Gene: ENSMUSG00000006498
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
87 |
93 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (51/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA-binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has four repeats of quasi-RNA recognition motif (RRM) domains that bind RNAs. This protein binds to the intronic polypyrimidine tracts that requires pre-mRNA splicing and acts via the protein degradation ubiquitin-proteasome pathway. It may also promote the binding of U2 snRNP to pre-mRNAs. This protein is localized in the nucleoplasm and it is also detected in the perinucleolar structure. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die before E6.5. Mice homozygous for a conditional allele activated in neuronal stem cells (NSCs) exhibit premature death, and non-obstructive hydrocephaly with loss of ependymal cells due to precocious NSC differentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
G |
T |
7: 119,292,933 (GRCm39) |
R21L |
probably benign |
Het |
| Adgb |
T |
A |
10: 10,286,562 (GRCm39) |
R120* |
probably null |
Het |
| Adgra3 |
C |
A |
5: 50,144,977 (GRCm39) |
A539S |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,740,047 (GRCm39) |
S1946P |
unknown |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cdc20b |
A |
T |
13: 113,173,582 (GRCm39) |
|
probably null |
Het |
| Cfh |
T |
G |
1: 140,036,328 (GRCm39) |
D730A |
possibly damaging |
Het |
| Dennd1a |
T |
C |
2: 37,748,444 (GRCm39) |
H345R |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,388,294 (GRCm39) |
S614G |
possibly damaging |
Het |
| Dio1 |
C |
T |
4: 107,149,583 (GRCm39) |
V240I |
possibly damaging |
Het |
| Dnah12 |
A |
G |
14: 26,492,460 (GRCm39) |
D1200G |
probably benign |
Het |
| Dpy19l4 |
A |
T |
4: 11,265,909 (GRCm39) |
S680T |
probably benign |
Het |
| Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
| Fcrlb |
T |
C |
1: 170,735,416 (GRCm39) |
|
probably null |
Het |
| Gad1 |
T |
A |
2: 70,417,476 (GRCm39) |
I253K |
possibly damaging |
Het |
| Gars1 |
A |
G |
6: 55,054,688 (GRCm39) |
D665G |
probably damaging |
Het |
| Gldn |
A |
G |
9: 54,245,648 (GRCm39) |
T400A |
probably benign |
Het |
| Gm1110 |
C |
A |
9: 26,795,122 (GRCm39) |
V455L |
possibly damaging |
Het |
| Gm11444 |
A |
G |
11: 85,741,069 (GRCm39) |
V30A |
unknown |
Het |
| Gm5134 |
T |
C |
10: 75,800,271 (GRCm39) |
S51P |
probably damaging |
Het |
| Gprc6a |
C |
T |
10: 51,502,883 (GRCm39) |
A327T |
probably benign |
Het |
| Gstt2 |
A |
T |
10: 75,670,019 (GRCm39) |
D34E |
probably benign |
Het |
| Icam2 |
A |
G |
11: 106,271,589 (GRCm39) |
F78L |
probably damaging |
Het |
| Jakmip1 |
T |
G |
5: 37,284,802 (GRCm39) |
C630G |
possibly damaging |
Het |
| Kcnu1 |
A |
T |
8: 26,386,686 (GRCm39) |
N523I |
probably damaging |
Het |
| Klf10 |
A |
G |
15: 38,297,282 (GRCm39) |
S253P |
probably benign |
Het |
| Mmd2 |
A |
T |
5: 142,594,361 (GRCm39) |
M1K |
probably null |
Het |
| Mroh2b |
G |
T |
15: 4,960,543 (GRCm39) |
G759C |
probably benign |
Het |
| Or10w3 |
T |
C |
19: 13,704,465 (GRCm39) |
L280P |
probably damaging |
Het |
| Or2b7 |
A |
T |
13: 21,740,176 (GRCm39) |
N5K |
probably benign |
Het |
| Or8k32 |
C |
T |
2: 86,368,872 (GRCm39) |
C127Y |
probably damaging |
Het |
| Orc5 |
A |
G |
5: 22,755,197 (GRCm39) |
F22S |
possibly damaging |
Het |
| Prlr |
A |
G |
15: 10,329,021 (GRCm39) |
I499V |
probably benign |
Het |
| Rassf3 |
C |
A |
10: 121,312,103 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
C |
T |
5: 28,573,264 (GRCm39) |
P455S |
probably damaging |
Het |
| Sgcd |
C |
G |
11: 47,016,481 (GRCm39) |
G127A |
possibly damaging |
Het |
| Slc22a13 |
A |
G |
9: 119,024,226 (GRCm39) |
I336T |
possibly damaging |
Het |
| Slc25a31 |
A |
T |
3: 40,679,471 (GRCm39) |
D312V |
possibly damaging |
Het |
| Slc37a4 |
G |
A |
9: 44,312,818 (GRCm39) |
S324N |
probably benign |
Het |
| Slco1a5 |
A |
G |
6: 142,221,207 (GRCm39) |
V13A |
probably benign |
Het |
| Srgap2 |
T |
C |
1: 131,220,371 (GRCm39) |
H907R |
probably damaging |
Het |
| Supv3l1 |
A |
C |
10: 62,271,487 (GRCm39) |
V381G |
probably damaging |
Het |
| Supv3l1 |
C |
A |
10: 62,271,488 (GRCm39) |
V381L |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,299,324 (GRCm39) |
D977G |
probably damaging |
Het |
| Syt3 |
T |
A |
7: 44,040,272 (GRCm39) |
Y168* |
probably null |
Het |
| Tshz1 |
A |
T |
18: 84,032,790 (GRCm39) |
Y539* |
probably null |
Het |
| Ttll13 |
A |
G |
7: 79,907,981 (GRCm39) |
K501R |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,612,732 (GRCm39) |
Q17116* |
probably null |
Het |
| Vcan |
T |
C |
13: 89,840,577 (GRCm39) |
T1656A |
probably damaging |
Het |
| Vmn1r73 |
G |
T |
7: 11,491,082 (GRCm39) |
C300F |
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,992,948 (GRCm39) |
K521E |
probably damaging |
Het |
| Zdhhc11 |
T |
A |
13: 74,130,885 (GRCm39) |
|
probably benign |
Het |
| Zfp760 |
T |
C |
17: 21,941,907 (GRCm39) |
S361P |
possibly damaging |
Het |
| Zranb2 |
A |
G |
3: 157,246,309 (GRCm39) |
Y114C |
probably damaging |
Het |
|
| Other mutations in Ptbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01115:Ptbp1
|
APN |
10 |
79,695,796 (GRCm39) |
splice site |
probably benign |
|
|
IGL01335:Ptbp1
|
APN |
10 |
79,698,708 (GRCm39) |
splice site |
probably null |
|
|
IGL03119:Ptbp1
|
APN |
10 |
79,695,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
carillon
|
UTSW |
10 |
79,694,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Citi
|
UTSW |
10 |
79,695,766 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1433:Ptbp1
|
UTSW |
10 |
79,699,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2418:Ptbp1
|
UTSW |
10 |
79,695,511 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4222:Ptbp1
|
UTSW |
10 |
79,695,047 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4223:Ptbp1
|
UTSW |
10 |
79,695,047 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4224:Ptbp1
|
UTSW |
10 |
79,695,047 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4688:Ptbp1
|
UTSW |
10 |
79,692,342 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5841:Ptbp1
|
UTSW |
10 |
79,695,766 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6961:Ptbp1
|
UTSW |
10 |
79,695,111 (GRCm39) |
splice site |
probably null |
|
|
R7242:Ptbp1
|
UTSW |
10 |
79,692,222 (GRCm39) |
missense |
unknown |
|
|
R8341:Ptbp1
|
UTSW |
10 |
79,699,045 (GRCm39) |
missense |
probably benign |
|
|
R8832:Ptbp1
|
UTSW |
10 |
79,699,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9141:Ptbp1
|
UTSW |
10 |
79,694,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9426:Ptbp1
|
UTSW |
10 |
79,694,897 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9465:Ptbp1
|
UTSW |
10 |
79,695,615 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCTTTTCAGCCAATGGAAACG -3'
(R):5'- AACCACCATGAGCTGTGAC -3'
Sequencing Primer
(F):5'- CTTTTCAGCCAATGGAAACGATAGC -3'
(R):5'- ACCATGAGCTGTGACCCAGG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation